ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.416T>C (p.Met139Thr)

gnomAD frequency: 0.00019  dbSNP: rs200858797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788125 SCV000927134 pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001385304 SCV001585113 pathogenic Hyper-IgM syndrome type 2 2022-06-26 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 139 of the AICDA protein (p.Met139Thr). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects AICDA function (PMID: 22715099). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 636339). This missense change has been observed in individual(s) with autosomal recessive hyper IgM syndrome (HIGM) (PMID: 27142677). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs200858797, gnomAD 0.2%).

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